Canonical Allele Identifier: CA8699134

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63479804G>A , CM000679.2:g.63479804G>A	GRCh38
NC_000017.10:g.61557165G>A , CM000679.1:g.61557165G>A	GRCh37
NC_000017.9:g.58910897G>A	NCBI36
NG_011648.1:g.7732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.547G>A MANE Select	ENSP00000290866.4:p.Ala183Thr
ENST00000290866.9:c.547G>A	ENSP00000290866.4:p.Ala183Thr
ENST00000428043.5:c.547G>A	ENSP00000397593.2:p.Ala183Thr
ENST00000580318.1:n.736G>A
ENST00000582627.1:c.547G>A	ENSP00000462280.1:p.Ala183Thr
ENST00000582678.5:c.453G>A	ENSP00000462995.1:p.Thr151=
ENST00000584529.5:n.581G>A
NM_000789.3:c.547G>A	NP_000780.1:p.Ala183Thr
XM_005257110.1:c.-3G>A	XP_005257167.1:n.-3G>A
NM_000789.4:c.547G>A MANE Select	NP_000780.1:p.Ala183Thr
NM_001382700.1:c.183-533G>A	NP_001369629.1:n.183-533G>A
NM_001382701.1:c.-197-533G>A	NP_001369630.1:n.-197-533G>A